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rs199476122

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476122(A;A)
Make rs199476122(A;G)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position3697
GeneMT-ND1
is asnp
is mentioned by
dbSNPrs199476122
ebirs199476122
HLIrs199476122
Exacrs199476122
Varsomers199476122
Maprs199476122
PheGenIrs199476122
hapmaprs199476122
1000 genomesrs199476122
hgdprs199476122
ensemblrs199476122
gopubmedrs199476122
geneviewrs199476122
scholarrs199476122
googlers199476122
pharmgkbrs199476122
gwascentralrs199476122
openSNPrs199476122
23andMers199476122
23andMe allrs199476122
SNP Nexus

SNPshotrs199476122
SNPdbers199476122
MSV3drs199476122
GWAS Ctlgrs199476122
Max Magnitude0
ClinVar
Risk rs199476122(A;A)
Alt rs199476122(A;A)
Reference rs199476122(G;G)
Significance Pathogenic
Disease Juvenile myopathy Leber hereditary optic neuropathy with dystonia Leber's optic atrophy
Variation info
Gene ND1
CLNDBN Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leber hereditary optic neuropathy with dystonia Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.3697G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010385.4, RCV000010386.2, RCV000056168.1,